Recessively inherited protein C deficiency in two sisters: intracerebral hemorrhage and coagulopathy complications.

IF 1.2 4区 医学 Q4 HEMATOLOGY
Goran G B Banjac, Boban B B Banjac, Lidija L B Banjac
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引用次数: 0

Abstract

Background: Protein C (PROC) deficiency is a rare hematological disorder caused by mutations in the PROC gene, leading to severe coagulopathy in homozygous cases. This report highlights the hematological challenges in managing homozygous protein C deficiency, particularly its association with intracerebral hemorrhage and thrombosis.

Case report: We describe two sisters with a homozygous PROC gene mutation (c.797A>G, p.Tyr266Cys), presenting with protein C activity <10%. The older sister (born 2020) developed neonatal intracerebral hemorrhage, followed by recurrent hemorrhage and deep vein thrombosis by 2025, managed with heparin, warfarin, and rivaroxaban. The younger sister (born 2022) also experienced neonatal hemorrhage and required anticoagulant therapy with heparin and warfarin. Both developed neurological complications, including epilepsy.

Conclusion: Homozygous protein C deficiency can lead to severe neonatal coagulopathy, necessitating early diagnosis and aggressive anticoagulant therapy. This case underscores the importance of multidisciplinary management and genetic screening in affected families.

隐性遗传蛋白C缺乏症姐妹二例:脑出血和凝血病并发症。
背景:蛋白C (PROC)缺乏症是一种罕见的由PROC基因突变引起的血液学疾病,在纯合子病例中会导致严重的凝血功能障碍。本报告强调了管理纯合蛋白C缺乏症的血液学挑战,特别是其与脑出血和血栓形成的关系。病例报告:我们描述了两个姐妹纯合子PROC基因突变(C . 797a >G, p.Tyr266Cys),表现为蛋白C活性。结论:纯合子蛋白C缺乏可导致严重的新生儿凝血功能障碍,需要早期诊断和积极的抗凝治疗。该病例强调了在受影响家庭中进行多学科管理和遗传筛查的重要性。
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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
111
审稿时长
4-8 weeks
期刊介绍: Blood Coagulation & Fibrinolysis is an international fully refereed journal that features review and original research articles on all clinical, laboratory and experimental aspects of haemostasis and thrombosis. The journal is devoted to publishing significant developments worldwide in the field of blood coagulation, fibrinolysis, thrombosis, platelets and the kininogen-kinin system, as well as dealing with those aspects of blood rheology relevant to haemostasis and the effects of drugs on haemostatic components
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